The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.

Benjamin, E R; Flanagan, J J; Schilling, A; Chang, H H; Agarwal, L; Katz, E; Wu, X; Pine, C; Wustman, B; Desnick, R J; Lockhart, D J; Valenzano, K J

Benjamin, E R; Flanagan, J J; Schilling, A; Chang, H H; Agarwal, L; Katz, E; Wu, X; Pine, C; Wustman, B; Desnick, R J; Lockhart, D J; Valenzano, K J.

Affiliation

Benjamin ER; Amicus Therapeutics, 6 Cedar Brook Drive, Cranbury, NJ 08512, USA. ebenjamin@amicustherapeutics.com

J Inherit Metab Dis ; 32(3): 424-40, 2009 Jun.

Article in En | MEDLINE | ID: mdl-19387866

Subject(s)

1-Deoxynojirimycin/analogs & derivatives; Fabry Disease/pathology; alpha-Galactosidase/metabolism; 1-Deoxynojirimycin/pharmacology; Cell Line; Drug Evaluation, Preclinical; Enzyme Activation/drug effects; Fabry Disease/enzymology; Fabry Disease/metabolism; Fibroblasts/drug effects; Fibroblasts/metabolism; Fibroblasts/pathology; Half-Life; Humans; Lymphocytes/drug effects; Lymphocytes/metabolism; Lymphocytes/pathology; Male; Models, Molecular; Molecular Chaperones/pharmacology; Mutation, Missense/physiology; Up-Regulation/drug effects; alpha-Galactosidase/chemistry; alpha-Galactosidase/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fabry Disease / 1-Deoxynojirimycin / Alpha-Galactosidase Limits: Humans / Male Language: En Journal: J Inherit Metab Dis Year: 2009 Type: Article Affiliation country: United States

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